Galactosialidosis

Lysosomal disease. Autosomal recessive transmission of a mutation of the gene coding for cathepsin A on locus 20q13. Cathepsin A is a protective protein that binds to β-galactosidase and to α-neuraminidase in a multienzyme complex providing activity and stability in lysosomes; when cathepsin A is absent, there is intralysosomial accumulation  of mucopolysaccharides. This causes a Hurler-like facies, hepatosplenomegaly, skeletal dysplasia, seizures, ataxia and cardiac anomalies (valvular lesions, cardiomyopathy).


There are 3 clinical forms;

-         infantile: edematous syndrome (sometimes hydrops fetalis), facial dysmorphism, skeletal and ocular anomalies (cherry-red spot, early blindness), hepatosplenomegaly, neurological impairment, renal failure. severe evolution and early mortality;

-         late infantile: facial dysmorphism, mental deterioration of varying importance

-         juvenile: facial dysmorphism, progressive neurological impairment, bone and eye damage (cherry red spot and opacities), angiokeratomas.


Anesthetic implications: 

preoperative echocardiography. Difficult intubation (similar to mucopolysaccharidoses).


References : 

 -        Friedhoff RJ, Rose SH, Brown MJ, Long TR, Wass CT.
 Galactosialidosis : a unique disease with significant implications during perioperative anesthesia management. 
Anesth Analg 2003; 97: 53-5.


Updated: April 2019